Hs05259230_cn

• Gene Symbol: AAMDC
• Assay Reference Genome Location: Chr.11:77867228 on build GRCh38
• Cytoband: 11q14.1

Target Gene Details

• Entrez Gene ID: 28971
• Gene Name: adipogenesis associated Mth938 domain containing
• Gene Aliases: C11orf67, CK067, PTD015
• Location: Chr.11:77821114-77901281 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AAMDC	NM_001316957.1			NP_001303886.1
	NM_001316958.1			NP_001303887.1
	NM_001316960.1			NP_001303889.1
	NM_001316961.1			NP_001303890.1
	NM_001316962.1			NP_001303891.1
	NM_024684.3			NP_078960.1
	NR_133637.1
	XM_011544968.2			XP_011543270.1
	XM_011544969.2			XP_011543271.1
	XM_017017620.1			XP_016873109.1
	AF092136.1			AAD40378.1
	AI569731.1
	AK024688.1			BAB14963.1
	BC002752.2			AAH02752.1
	BC016854.2			AAH16854.1
	BI791786.1
	BM930331.1
	BP270361.1
	BX646013.1
	CN362204.1
	CR457332.1			CAG33613.1

Target Gene Details

• Entrez Gene ID: 51773
• Gene Name: remodeling and spacing factor 1
• Gene Aliases: HBXAP, RSF-1, XAP8, p325
• Location: Chr.11:77660009-77872232 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RSF1	XM_017017923.1			XP_016873412.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv520740	Chr.11:77842592 - 78286890 on Build GRCh38	Gain	INTS4 ALG8 KCTD21 RSF1 KCTD21-AS1 AAMDC GAB2 THRSP NDUFC2 NDUFC2-KCTD14 KCTD14 USP35
nsv555453	Chr.11:77866448 - 77907395 on Build GRCh38	Loss	INTS4 RSF1 AAMDC
nsv1050891	Chr.11:77705600 - 78076956 on Build GRCh38	Gain	INTS4 RSF1 AAMDC THRSP NDUFC2 NDUFC2-KCTD14 RPS20P27 KCTD14

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

negative regulation of apoptotic process
positive regulation of fat cell differentiation
positive regulation of transcription from RNA polymerase II promoter
nucleosome assembly
chromatin remodeling
DNA-templated transcription, initiation
covalent chromatin modification
nucleosome positioning
CENP-A containing nucleosome assembly
negative regulation of DNA binding
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of viral transcription

Function(s)

protein binding
zinc ion binding
ATPase activity
histone binding